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Gene Review

PMP22  -  peripheral myelin protein 22

Homo sapiens

Synonyms: CMT1A, CMT1E, DSS, GAS-3, GAS3, ...
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Disease relevance of PMP22


Psychiatry related information on PMP22

  • In family 1, a 6-year-old girl and her 5-year-old brother were diagnosed with mental retardation, short stature, dysmorphic features, and Charcot-Marie-Tooth disease type 1A (CMT1A) [6].
  • Developing decision support systems for integrated coastal management in the tropics: is the ICM decision-making environment too complex for the development of a useable and useful DSS [7]?
  • CONCLUSION: The authors conclude that CMT1A patients with normal peripheral hearing have auditory processing abilities that were not indicative for an auditory processing disorder [8].

High impact information on PMP22

  • Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease [9].
  • PMP22 Thr(118)Met: recessive CMT1 mutation or polymorphism [10]?
  • Duplications of a chromosome Xp21 locus DSS (Dosage Sensitive Sex reversal) are associated with male to female sex reversal [11].
  • The Charcot-Marie Tooth disease type 1A (CMT1A) duplication and hereditary neuropathy with liability to pressure palsies (HNPP) deletion are reciprocal products of an unequal crossing-over event between misaligned flanking CMT1A-REP repeats [12].
  • As the deleted DNA region includes the coding region for a peripheral myelin gene (PMP22), we used single strand conformation analysis to examine this gene for mutations in the non-deleted HNPP family [13].

Chemical compound and disease context of PMP22


Biological context of PMP22


Anatomical context of PMP22


Associations of PMP22 with chemical compounds


Regulatory relationships of PMP22


Other interactions of PMP22


Analytical, diagnostic and therapeutic context of PMP22


  1. Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A. Roa, B.B., Garcia, C.A., Pentao, L., Killian, J.M., Trask, B.J., Suter, U., Snipes, G.J., Ortiz-Lopez, R., Shooter, E.M., Patel, P.I., Lupski, J.R. Nat. Genet. (1993) [Pubmed]
  2. Molecular genetics of Charcot-Marie-Tooth disease and related neuropathies. Chance, P.F., Fischbeck, K.H. Hum. Mol. Genet. (1994) [Pubmed]
  3. Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients. Hattori, N., Yamamoto, M., Yoshihara, T., Koike, H., Nakagawa, M., Yoshikawa, H., Ohnishi, A., Hayasaka, K., Onodera, O., Baba, M., Yasuda, H., Saito, T., Nakashima, K., Kira, J., Kaji, R., Oka, N., Sobue, G. Brain (2003) [Pubmed]
  4. Tetraspan myelin protein PMP22 and demyelinating peripheral neuropathies: new facts and hypotheses. Müller, H.W. Glia (2000) [Pubmed]
  5. Epithelial membrane protein-2 and epithelial membrane protein-3: two novel members of the peripheral myelin protein 22 gene family. Taylor, V., Suter, U. Gene (1996) [Pubmed]
  6. Evidence for involvement of TRE-2 (USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocations. Ou, Z., Jarmuz, M., Sparagana, S.P., Michaud, J., Décarie, J.C., Yatsenko, S.A., Nowakowska, B., Furman, P., Shaw, C.A., Shaffer, L.G., Lupski, J.R., Chinault, A.C., Cheung, S.W., Stankiewicz, P. Hum. Genet. (2006) [Pubmed]
  7. Developing decision support systems for integrated coastal management in the tropics: is the ICM decision-making environment too complex for the development of a useable and useful DSS? Westmacott, S. J. Environ. Manage. (2001) [Pubmed]
  8. Auditory processing in patients with Charcot-Marie-Tooth disease type 1A. Neijenhuis, K., Beynon, A., Snik, A., van Engelen, B., van den Broek, P. Otol. Neurotol. (2003) [Pubmed]
  9. Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease. Roscioli, T., Cliffe, S.T., Bloch, D.B., Bell, C.G., Mullan, G., Taylor, P.J., Sarris, M., Wang, J., Donald, J.A., Kirk, E.P., Ziegler, J.B., Salzer, U., McDonald, G.B., Wong, M., Lindeman, R., Buckley, M.F. Nat. Genet. (2006) [Pubmed]
  10. PMP22 Thr(118)Met: recessive CMT1 mutation or polymorphism? Nelis, E., Holmberg, B., Adolfsson, R., Holmgren, G., van Broeckhoven, C. Nat. Genet. (1997) [Pubmed]
  11. Mouse Dax1 expression is consistent with a role in sex determination as well as in adrenal and hypothalamus function. Swain, A., Zanaria, E., Hacker, A., Lovell-Badge, R., Camerino, G. Nat. Genet. (1996) [Pubmed]
  12. A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element. Reiter, L.T., Murakami, T., Koeuth, T., Pentao, L., Muzny, D.M., Gibbs, R.A., Lupski, J.R. Nat. Genet. (1996) [Pubmed]
  13. A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies. Nicholson, G.A., Valentijn, L.J., Cherryson, A.K., Kennerson, M.L., Bragg, T.L., DeKroon, R.M., Ross, D.A., Pollard, J.D., McLeod, J.G., Bolhuis, P.A. Nat. Genet. (1994) [Pubmed]
  14. Characterization of a tumor-associated gene, a member of a novel family of genes encoding membrane glycoproteins. Ben-Porath, I., Benvenisty, N. Gene (1996) [Pubmed]
  15. Terminal latency index and modified F ratio in distinction of chronic demyelinating neuropathies. Attarian, S., Azulay, J.P., Boucraut, J., Escande, N., Pouget, J. Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology. (2001) [Pubmed]
  16. A multicenter, randomized, double-blind, placebo-controlled trial of long-term ascorbic acid treatment in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL): The study protocol [EudraCT no.: 2006-000032-27]. Pareyson, D., Schenone, A., Fabrizi, G.M., Santoro, L., Padua, L., Quattrone, A., Vita, G., Gemignani, F., Visioli, F., Solari, A. Pharmacol. Res. (2006) [Pubmed]
  17. Identification of a new Pmp22 mouse mutant and trafficking analysis of a Pmp22 allelic series suggesting that protein aggregates may be protective in Pmp22-associated peripheral neuropathy. Isaacs, A.M., Jeans, A., Oliver, P.L., Vizor, L., Brown, S.D., Hunter, A.J., Davies, K.E. Mol. Cell. Neurosci. (2002) [Pubmed]
  18. SR13/PMP-22 expression in rat nervous system, in PC12 cells, and C6 glial cell lines. De León, M., Nahin, R.L., Mendoza, M.E., Ruda, M.A. J. Neurosci. Res. (1994) [Pubmed]
  19. The peripheral myelin protein 22 and epithelial membrane protein family. Jetten, A.M., Suter, U. Prog. Nucleic Acid Res. Mol. Biol. (2000) [Pubmed]
  20. Peripheral myelin protein 22 and protein zero: a novel association in peripheral nervous system myelin. D'Urso, D., Ehrhardt, P., Müller, H.W. J. Neurosci. (1999) [Pubmed]
  21. Ultrastructural distribution of PMP22 in Charcot-Marie-Tooth disease type 1A. Haney, C., Snipes, G.J., Shooter, E.M., Suter, U., Garcia, C., Griffin, J.W., Trapp, B.D. J. Neuropathol. Exp. Neurol. (1996) [Pubmed]
  22. Expression analysis of the PMP22 gene in glioma and osteogenic sarcoma cell lines. Hühne, K., Park, O., Liehr, T., Rautenstrauss, B. J. Neurosci. Res. (1999) [Pubmed]
  23. Myelin uncompaction in Charcot-Marie-Tooth neuropathy type 1A with a point mutation of peripheral myelin protein-22. Fabrizi, G.M., Cavallaro, T., Taioli, F., Orrico, D., Morbin, M., Simonati, A., Rizzuto, N. Neurology (1999) [Pubmed]
  24. Major histocompatibility complex class II expression and macrophage responses in genetically proven Charcot-Marie-Tooth type 1 and hereditary neuropathy with liability to pressure palsies. Stoll, G., Gabreëls-Festen, A.A., Jander, S., Müller, H.W., Hanemann, C.O. Muscle Nerve (1998) [Pubmed]
  25. Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene. Roa, B.B., Garcia, C.A., Suter, U., Kulpa, D.A., Wise, C.A., Mueller, J., Welcher, A.A., Snipes, G.J., Shooter, E.M., Patel, P.I., Lupski, J.R. N. Engl. J. Med. (1993) [Pubmed]
  26. Early onset neuropathy in a compound form of Charcot-Marie-Tooth disease. Meggouh, F., de Visser, M., Arts, W.F., De Coo, R.I., van Schaik, I.N., Baas, F. Ann. Neurol. (2005) [Pubmed]
  27. Genetic evaluation of inherited motor/sensory neuropathy. Chance, P.F. Supplements to Clinical neurophysiology. (2004) [Pubmed]
  28. Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies. Nelis, E., Haites, N., Van Broeckhoven, C. Hum. Mutat. (1999) [Pubmed]
  29. Peripheral myelin protein 22 kDa and protein zero: domain specific trans-interactions. Hasse, B., Bosse, F., Hanenberg, H., Müller, H.W. Mol. Cell. Neurosci. (2004) [Pubmed]
  30. Determination of gene dosage at the PMP22 and androgen receptor loci by quantitative PCR. Poropat, R.A., Nicholson, G.A. Clin. Chem. (1998) [Pubmed]
  31. Molecular diagnosis of PMP22-associated neuropathies using fluorescence in situ hybridization (FISH) on archival peripheral nerve tissue preparations. Liehr, T., Grehl, H., Rautenstrauss, B. Acta Neuropathol. (1997) [Pubmed]
  32. Abnormal Schwann cell-axon interactions in CMT neuropathies. The effects of mutant Schwann cells on the axonal cytoskeleton and regeneration-associated myelination. Sahenk, Z. Ann. N. Y. Acad. Sci. (1999) [Pubmed]
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